Canonical Allele Identifier: CA457230772

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305516A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665462A>C , CM000669.2:g.117665462A>C	GRCh38
NC_000007.13:g.117305516A>C , CM000669.1:g.117305516A>C	GRCh37
NC_000007.12:g.117092752A>C	NCBI36
NG_016465.4:g.204679A>C , LRG_663:g.204679A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*349A>C	ENSP00000497673.2:n.*349A>C
ENST00000647978.2:c.*3854A>C	ENSP00000497658.1:n.*3854A>C
ENST00000649781.2:c.3957A>C	ENSP00000497203.1:p.Thr1319=
ENST00000685018.2:c.*353A>C	ENSP00000510194.2:n.*353A>C
ENST00000687278.2:c.*793A>C	ENSP00000509593.2:n.*793A>C
ENST00000699585.1:c.*349A>C	ENSP00000514456.1:n.*349A>C
ENST00000699598.1:c.4140A>C	ENSP00000514467.1:p.Thr1380=
ENST00000699599.1:c.*353A>C	ENSP00000514468.1:n.*353A>C
ENST00000699600.1:c.*801A>C	ENSP00000514469.1:n.*801A>C
ENST00000699601.1:c.*2515A>C	ENSP00000514470.1:n.*2515A>C
ENST00000699602.1:c.4134A>C	ENSP00000514471.1:p.Thr1378=
ENST00000699604.1:c.*3964A>C	ENSP00000514472.1:n.*3964A>C
ENST00000699605.1:c.3714A>C	ENSP00000514473.1:p.Thr1238=
ENST00000699606.1:n.2308A>C
ENST00000685018.1:c.1004A>C	ENSP00000510194.1:n.1004A>C
ENST00000687278.1:c.1927A>C	ENSP00000509593.1:n.1927A>C
ENST00000689011.1:c.722A>C
ENST00000003084.11:c.4140A>C MANE Select	ENSP00000003084.6:p.Thr1380=
ENST00000647720.1:c.1590A>C
ENST00000649781.1:c.3957A>C	ENSP00000497203.1:p.Thr1319=
ENST00000003084.10:c.4140A>C	ENSP00000003084.6:p.Thr1380=
ENST00000426809.5:c.4050A>C	ENSP00000389119.1:p.Thr1350=
ENST00000600166.1:c.266A>C
NM_000492.3:c.4140A>C , LRG_663t1:c.4140A>C	NP_000483.3:p.Thr1380=
XM_011515751.1:c.4230A>C	XP_011514053.1:p.Thr1410=
XM_011515752.1:c.4230A>C	XP_011514054.1:p.Thr1410=
XM_011515753.1:c.3897A>C	XP_011514055.1:p.Thr1299=
XM_011515754.1:c.3897A>C	XP_011514056.1:p.Thr1299=
NM_000492.4:c.4140A>C MANE Select	NP_000483.3:p.Thr1380=